G25D (p.Gly25Asp) variant of PRKAA2 (P54646)
G25D (p.Gly25Asp) in PRKAA2 (P54646) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data and structural context.
G25D (p.Gly25Asp) variant details
- p.Gly25Asp
- cosmic curated COSV64802
- Ensembl rs867333017
- Missense
- Variant Prioritization Score for Impact Estimate 0.8
- REVEL 0.90
- MetaLR 0.84
- MetaSVM 0.79
- CADD 28.50
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9.5e-07)
- Structural context available